GENE NAME | LEPR |
CHROMOSOME | 1 |
ENSEMBL ID | None |
ENTREZ ID | ENSG00000116678 |
UNIPROT ACCESSION NUMBER | P48357 |
GO MOLECULAR FUNCTION | ['peptide hormone binding', 'cytokine binding', 'leptin receptor activity', 'transmembrane signaling receptor activity', 'protein binding', 'cytokine receptor activity'] |
ESSENTIAL IN MOUSE | Non-essential |
PATHWAYS | hsa04060; hsa04080; hsa04152; hsa04630; hsa04920; hsa04932 |
4 combinations linked to LEPR | OLI1382; OLI1377; OLI357; OLI1427 |
4 variants linked to LEPR | LEPR:p.1128del; LEPR:c.390G>T, p.Gln130His; LEPR:c.2246T>C, p.Leu749Ser; LEPR:c.371A>G, p.Asp124Gly |
3 diseases linked to LEPR | Hypogonadotropic hypogonadism with absent puberty phenotype; Hypogonadotropic hypogonadism with Fertile Eunuch phenotype; Kallmann syndrome |